A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512340



Internal ID20885673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56627001..56633900hg38UCSC Ensembl
chr16:56660913..56667812hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2890n223
Supporting Variantsnssv18030230
Samples
Known GenesMT1E, MT1M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512340
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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